LOWER LIP PITS AND COMPLETE IDIOPATHIC PRECOCIOUS PUBERTY IN A PATIENT WITH KABUKI MAKE-UP (NIIKAWA-KUROKI) SYNDROME

被引：46

作者：

FRANCESCHINI, P ^{[1
]}

VARDEU, MP ^{[1
]}

GUALA, A ^{[1
]}

FRANCESCHINI, D ^{[1
]}

TESTA, A ^{[1
]}

CORRIAS, A ^{[1
]}

CHIABOTTO, P ^{[1
]}

机构：

[1] OSPED INFANTILE REGINA MARGHERITA,DIV ENDOCRINOL PEDIAT,TURIN,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 47卷 / 03期

关键词：

VANDERWOUDE SYNDROME; HYPODONTIA; FACIAL ANOMALIES; KMS;

D O I：

10.1002/ajmg.1320470326

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 13 1/2-year-old patient with Kabuki make-up syndrome and complete idiopathic precocious puberty manifested at 7 1/2 years. In addition to the other specific clinical signs, she showed hypodontia and lower lip pits, as typically seen in the Van der Woude syndrome. The significance of lower lip pits in the Kabuki make-up syndrome is discussed. (C) 1993 Wiley-Liss, Inc.

引用

页码：423 / 425

页数：3

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